Canonical Allele Identifier: CA519277474

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641560C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413223C>G , CM000685.2:g.154413223C>G	GRCh38
NC_000023.10:g.153641560C>G , CM000685.1:g.153641560C>G	GRCh37
NC_000023.9:g.153294754C>G	NCBI36
NG_009634.1:g.6684C>G
NG_012884.2:g.3866G>C
NG_009634.2:g.6689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.683C>G
ENST00000698235.1:n.242C>G
ENST00000698317.1:n.1209C>G
ENST00000698318.1:n.1070C>G
ENST00000470127.2:n.304C>G
ENST00000475699.6:c.309C>G	ENSP00000419854.3:p.Arg103=
ENST00000476800.2:n.1212C>G
ENST00000483674.3:n.146C>G
ENST00000601016.6:c.255C>G MANE Select	ENSP00000469981.1:p.Arg85=
ENST00000612012.5:c.255C>G	ENSP00000482070.2:p.Arg85=
ENST00000612460.5:c.255C>G	ENSP00000481037.1:p.Arg85=
ENST00000614595.2:n.1605C>G
ENST00000615658.5:n.568C>G
ENST00000616020.5:c.309C>G	ENSP00000483636.2:p.Arg103=
ENST00000617701.5:c.255C>G	ENSP00000481645.1:p.Arg85=
ENST00000621647.2:n.308C>G
ENST00000652354.1:c.-22C>G	ENSP00000498734.1:n.-22C>G
ENST00000652358.1:c.-40C>G	ENSP00000498464.1:n.-40C>G
ENST00000652390.1:c.174C>G	ENSP00000498858.1:p.Arg58=
ENST00000652476.1:n.416C>G
ENST00000652682.1:c.255C>G	ENSP00000498288.1:p.Arg85=
ENST00000652685.1:n.307C>G
ENST00000369776.8:c.180C>G	ENSP00000358791.4:p.Arg60=
ENST00000426231.5:c.71C>G
ENST00000439735.2:c.255C>G	ENSP00000398193.1:p.Arg85=
ENST00000475699.5:c.255C>G	ENSP00000419854.2:p.Arg85=
ENST00000476679.5:n.168C>G
ENST00000476800.1:n.133C>G
ENST00000479875.1:n.284C>G
ENST00000483780.5:n.29C>G
ENST00000601016.5:c.255C>G	ENSP00000469981.1:p.Arg85=
ENST00000612012.4:c.309C>G	ENSP00000482070.1:p.Arg103=
ENST00000612460.4:c.255C>G	ENSP00000481037.1:p.Arg85=
ENST00000613002.4:c.255C>G	ENSP00000478154.1:p.Arg85=
ENST00000613634.4:n.575C>G
ENST00000615658.4:n.581C>G
ENST00000615986.4:c.255C>G	ENSP00000480133.1:p.Arg85=
ENST00000616020.4:c.309C>G	ENSP00000483636.1:p.Arg103=
ENST00000617701.4:c.255C>G	ENSP00000481645.1:p.Arg85=
ENST00000620808.4:c.255C>G	ENSP00000479311.1:p.Arg85=
ENST00000621647.1:n.540C>G
NM_000116.4:c.255C>G	NP_000107.1:p.Arg85=
NM_001303465.1:c.309C>G	NP_001290394.1:p.Arg103=
NM_181311.3:c.255C>G	NP_851828.1:p.Arg85=
NM_181312.3:c.255C>G	NP_851829.1:p.Arg85=
NM_181313.3:c.255C>G	NP_851830.1:p.Arg85=
NR_024048.2:n.581C>G
XM_006724836.1:c.309C>G	XP_006724899.1:p.Arg103=
XM_006724837.1:c.309C>G	XP_006724900.1:p.Arg103=
XM_006724839.1:c.309C>G	XP_006724902.1:p.Arg103=
XM_006724841.2:c.-40C>G	XP_006724904.1:n.-40C>G
XM_006724842.2:c.-40C>G	XP_006724905.1:n.-40C>G
XM_011531189.1:c.309C>G	XP_011529491.1:p.Arg103=
XM_011531190.1:c.-40C>G	XP_011529492.1:n.-40C>G
XM_011531191.1:c.-22C>G	XP_011529493.1:n.-22C>G
XM_011531192.1:c.-143C>G	XP_011529494.1:n.-143C>G
XR_938511.1:n.612C>G
XM_006724841.4:c.-40C>G	XP_006724904.1:n.-40C>G
XM_006724842.4:c.-40C>G	XP_006724905.1:n.-40C>G
XM_011531191.2:c.-22C>G	XP_011529493.1:n.-22C>G
XM_017029761.1:c.255C>G	XP_016885250.1:p.Arg85=
XM_017029762.1:c.309C>G	XP_016885251.1:p.Arg103=
XM_017029763.1:c.255C>G	XP_016885252.1:p.Arg85=
XM_017029765.2:c.-40C>G	XP_016885254.1:n.-40C>G
XM_024452431.1:c.309C>G	XP_024308199.1:p.Arg103=
NM_000116.5:c.255C>G MANE Select	NP_000107.1:p.Arg85=
NM_001303465.2:c.309C>G	NP_001290394.1:p.Arg103=
NM_181311.4:c.255C>G	NP_851828.1:p.Arg85=
NM_181312.4:c.255C>G	NP_851829.1:p.Arg85=
NM_181313.4:c.255C>G	NP_851830.1:p.Arg85=
NR_024048.3:n.560C>G